A TNR Frameshift Variant in Weimaraner Dogs with an Exercise-Induced Paroxysmal Movement Disorder: TNR variant in dogs with a movement disorder

Matthias Christen, Rodrigo Gutierrez Quintana, Matthew Green, Kiterie M E Faller, Mark Lowrie, Clare Rusbridge, Kenny Bossens, Cathryn Mellersh, Louise Pettitt, Tiina Heinonen, Hannes Lohi, Vidhya Jagannathan, Tosso Leeb

Research output: Contribution to journalArticlepeer-review

Abstract / Description of output

Background: Some paroxysmal movement disorders remain without an identified genetic cause. Objectives: The aim was to identify the causal genetic variant for a paroxysmal dystonia–ataxia syndrome in Weimaraner dogs. Methods: Clinical and diagnostic investigations were performed. Whole genome sequencing of one affected dog was used to identify private homozygous variants against 921 control genomes. Results: Four Weimaraners were presented for episodes of abnormal gait. Results of examinations and diagnostic investigations were unremarkable. Whole genome sequencing revealed a private frameshift variant in the TNR (tenascin-R) gene in an affected dog, XM_038542431.1:c.831dupC, which is predicted to truncate more than 75% of the open read frame. Genotypes in a cohort of 4 affected and 70 unaffected Weimaraners showed perfect association with the disease phenotype. Conclusions: We report the association of a TNR variant with a paroxysmal dystonia–ataxia syndrome in Weimaraners. It might be relevant to include sequencing of this gene in diagnosing humans with unexplained paroxysmal movement disorders.

Original languageEnglish
Pages (from-to)1094-1099
Number of pages7
JournalMovement Disorders
Volume38
Issue number6
Early online date6 Apr 2023
DOIs
Publication statusPublished - Jun 2023

Keywords / Materials (for Non-textual outputs)

  • canine
  • neurogenetics
  • extracellular brain matrix
  • dystonia
  • episodic ataxia
  • precision medicine

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